Inborn Errors of Metabolism in Neurology (Wilson's Disease, Refsum's Disease and Lipidoses)

A case of GM2 gangliosidosis of late onset

“…1898 of the early infantile form of the disease which bears their name led to the recognition of a group of familial diseases with varying ages of 2t onset and duration, some with progressive blindness as well as dementia. As in the cases previously described (Cumings, 1968(Cumings, , 1971 of type 3 GM2-gangliosidosis, our case G.D. showed no evidence of central nervous system involvement in early childhood until in his sixth year when there was clear evidence of a failure to learn at school accompanied by a psychological disturbance in the form of excessive timidity in the playground. Hyperacusis, which is a consistent early symptom in Tay-Sachs disease, was also a presenting symptom in our case, although it did not feature in the case described by .…”

“…The TLC of one such probable case of type 3, in a boy of nearly 6 years, has been illustrated by one of us previously (Cumings, 1968(Cumings, , 1971). Suzuki, Suzuki, Rapin, Suzuki, and Ishii (1970) described one case in a child whose disease commenced at 6 years of age and who died aged 14 years, while other possible cases have been recorded (Bernheimer and Seitelberger, 1968).…”

Anderson-Fabry disease: a histopathological study of three cases with observations on the mechanism of production of pain

“…Chemical analysis of portions of the brains and kidneys in cases 1 and 2 was undertaken by Professor J. N. Cumings (1971). No abnormality was detected in the frontal cortex or white matter in either case.…”

Neuronal Ceroid Lipofuscinosis (Batten's Disease)

“…However, the defect may be related to an absence of galactosyl transferase which converts GM2 to GMl ganglioside (Cumings, 1968). There appear to be 3 types of the condition depending on variations of the enzyme deficiency (Cumings, 1971). Type 3 is of relatively late onset.…”

“…Among older children, Cumings (1971) mentions two brothers aged 41 and 6 years who at necropsy showed raised levels of GM3 and GM4 in both brain and viscera. A case of juvenile GM2 gangliosidosis (Type 3) has recently been reported (Suzuki et al, 1970).…”